DSG2 E713K - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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DSG2 E713K

(DSG2 Glu713Lys)

Short summary


Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • A @ chr18:29122618: 5.8% (582/10120) in EVS
  • A @ chr18:27376615: 3.9% (5/128) in GET-Evidence
  • Frequency shown in summary reports: 5.8% (582/10120)



hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het A @ chr18:29122618


hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het A @ chr18:29122618


hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het A @ chr18:29122618


hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het A @ chr18:29122618


huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het A @ chr18:29122618


huAE6220 - CGI sample GS00253-DNA_H01_200_37
het A @ chr18:29122618


huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het A @ chr18:29122618


huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het A @ chr18:29122618


GS06985 - var-GS06985-1100-36-ASM
het A @ chr18:27376616


GS12004 - var-GS12004-1100-36-ASM
het A @ chr18:27376616


Other external references

  • rs79241126
  • GeneTests records for the DSG2 gene
    Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Autos
    Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy10
  • Score: 0.137 (benign)
    Web search results (7 hits -- see all)
  • Nature Clinical Practice Cardiovascular Medicine | Variations ...
    Variations in DSG2: V56M, V158G and V920G are not pathogenic for ... our study we also identified the DSG2-E713K polymorphism in 16% of 73 patients with FDCM as well as in 13.9 ...
  • DSG2 - desmoglein 2
    Dsg2 is immunolocalised at cell-cell boundaries in normal gastric mucosa. ... E713K in desmoglein-2 and arrhythmogenic right ventricular dysplasia/ cardiomyopathy. ...
  • Nature Clinical Practice Cardiovascular Medicine | E713K in ...
    E713K in desmoglein-2 and arrhythmogenic right ventricular dysplasia/cardiomyopathy ... and Klauke for reporting further characterization of this DSG2 allele. ...
  • BioPortfolio - desmoglein 2
    Desmoglein-2 is a protein that in humans is encoded by the DSG2 gene. ... E713K in desmoglein-2 and arrhythmogenic right ventricular dysplasia ...
  • Desmoglein 2 : KMLE Medical Dictionary - Online medical ...
    Aims Mutations in the desmoglein-2 (DSG2) gene have been reported in patients with ... E713K in desmoglein-2 and arrhythmogenic right ventricular dysplasia/ cardiomyopathy ...
  • News Archive
    and their paper mentioned below, the desmoglein-2 (DSG2) mutations V158G and V920G are now classified as ... response from Judge, the DSG2 E713K mutation is now classified as ...
  • Papers by Judge DP | Labmeeting
    E713K in desmoglein-2 and arrhythmogenic right ventricular dysplasia/cardiomyopathy. ... DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy. ...

Other in silico analyses

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 3

Edit history

Gene search

"GENE" or "GENE A123C":

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